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Peeling skin syndrome

Gene: CARD14

Red List (low evidence)
CARD14 (caspase recruitment domain family member 14)
EnsemblGeneIds (GRCh38): ENSG00000141527
EnsemblGeneIds (GRCh37): ENSG00000141527
OMIM: 607211, Gene2Phenotype
CARD14 is in 11 panels

1 review

David Kelsell (Queen Mary University of London)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Pityriasis rubra pilaris; 173200, PRP; thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region

Created: 12 Dec 2016, 11:51 a.m.

Panel version: 0.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Pityriasis rubra pilaris, OMIM:173200
  • Thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region
OMIM
607211
Clinvar variants
Variants in CARD14
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Jan 2022, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CARD14 were changed from Pityriasis rubra pilaris, 173200; PRP; thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region to Pityriasis rubra pilaris, OMIM:173200; Thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region

12 Dec 2016, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

12 December 2016: Reviews were assessed, and panel was revised according to expert review and additional curation.

12 Dec 2016, Gel status: 0

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene CARD14 were set to Pityriasis rubra pilaris, 173200; PRP; thick scales on the scalp and areas of superficial peeling on the face, palms, soles, and genital region

8 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CARD14 was created by rfoulger

8 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CARD14 was added to Peeling skin syndromepanel. Sources: Other